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Diagnosis of genetic cardiac disease (Panel)

  • Service de gntique clinique chromosomique et molculaire
  • Ple de biologie
  • CHU de Saint-Etienne - Hpital Nord
  • Avenue Albert Raimond
  • 42270 SAINT-PRIEST-EN-JAREZ
  • FRANCE
  • Director of laboratory : Dr Renaud L TOURAINE
  • More information
  • Phone : 33 (0)4 77 82 81 16
  • Additional Phone : -
  • Fax : 33 (0)4 77 82 82 59
  • Website
  • Contact
Last update: April 2023

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
PCR based techniques
Deletion / Duplication analysis
Array based techniques

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

Cardiac genetics - Hypertrophic cardiomyopathies
2021
Cardiac genetics - arrhythmias
2021
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